This expert opinion article summarizes deliberations from a focused panel discussion involving nine retina specialists on the clinical utility of faricimab in managing neovascular age-related macular degeneration (nAMD) and diabetic macular edema (DME). The discussion explored evolving understanding of the multifactorial disease mechanisms, including pathways beyond vascular endothelial growth factor-A, and the rationale for dual inhibition strategies. Experts shared their clinical perspectives on faricimab use in diverse patient profiles, treatment sequencing, and individualized dosing approaches to achieve durable disease control. Practical considerations around early initiation, optimization of treatment intervals, and real-world applicability were also discussed. The insights highlight expert-derived strategies for integrating faricimab as a first-line treatment into clinical practice, emphasizing its role in achieving vascular stability and the improved durability of treatment response. Overall, the panel concluded that faricimab represents a clinically valuable first-line therapeutic option for nAMD and DME, enabling individualized, durable disease control in routine practice.

PURPOSE:To analyze the independent risk factors associated with early emulsification in rhegmatogenous retinal detachments (RRDs) and determine the association between suboptimal fill of silicone oil (SO) and the onset of early emulsification. DESIGN:Retrospective observational cohort study. METHODS:Single-center (institutional) study. Electronic medical records of 81 eyes (81 patients) with RRD undergoing pars-plana vitrectomy with SO injection (from July 2020 to June 2021) were evaluated. Eyes with <6 weeks follow-up, combined RDs, eyes with active inflammation (<3 months from surgery), keratoprothesis, and nystagmus were excluded. The demographic data, cause of RRD, degree of myopia, best corrected visual acuity, number of breaks, presence of inferior break, preoperative proliferative vitreoretinopathy, relaxing retinectomies, buckle encirclage, technique of oil injection, viscosity of SO, duration of tamponade, presence of suboptimal fill on ultra-widefield imaging, postoperative lens status, and intraocular pressure on follow-up were analyzed. MAIN OUTCOME MEASURES:Univariate and multivariate logistic-regression analysis was performed to determine the independent risk factors associated with SO emulsification. RESULTS:The mean age of the patients was 39.4 ± 18.7 years. The mean duration of oil tamponade was 8.6 ± 7.3 months. 58.0% eyes had suboptimal SO fill. On multivariate analysis, age of the patient (P = 0.032), use of encirclage (0.006), and duration of oil-in-situ (0.015) were noted to have a significant association to SO emulsification. On analysis of eyes with oil duration <6 months (n = 37), suboptimal fill was a significant associate to emulsification (P = 0.025). CONCLUSIONS:Suboptimal fill of SO in RRDs has a higher risk of early emulsification.

PURPOSE:To evaluate the demographic and clinical characteristics, treatment indications, long-term outcomes and prognostic factors in patients with congenital x-linked retinoschisis (CXLR) managed conservatively or surgically. METHODS:This retrospective, international, multicentre study included data from retina specialists across 14 centres in 9 countries. Demographic information, best corrected visual acuity (BCVA), phenotype, optical coherence tomography (OCT) findings and disease management were analysed. Surgical indications, techniques and anatomical and visual outcomes were evaluated. RESULTS:A total of 635 eyes of 318 patients were included. Median age at presentation was 9 years (range: 0-81). Observation was preferred in 73.5% of eyes, laser photocoagulation (LPC) in 9.3% and vitreoretinal surgery in 18.1%. Surgical patients presented younger (7 vs. 10 years; p = 0.002) and with worse baseline BCVA (1.50 vs. 0.50 LogMAR; p < 0.0001). Disease symmetry was lower in surgical cases (24.4%) than in conservative and LPC groups (p < 0.0001). Vitreous veils, peripheral pigmentary changes and white spiculations were predictive of surgical need, particularly in eyes with rhegmatogenous retinal detachment (RRD) and vitreous haemorrhage (VH). OCT predictors of peripheral progression included absence of ganglion cell layer cysts and presence of outer plexiform layer cysts. Single-surgery anatomical success was 68.7%, increasing to 94.7% with additional procedures. Inner-wall retinectomy significantly improved outcomes in macula-threatening retinoschisis (p = 0.026). Visual acuity improved significantly after surgery in RRD and VH cases (p = 0.003). CONCLUSION:CXLR shows a broad clinical spectrum requiring individualized care. Fundus and OCT features effectively predicted progression and surgical need. Surgical management achieved high success, with inner-wall retinectomy beneficial in certain cases.

A young girl with enhanced S-cone syndrome (ESCS) and raised serum ornithine was diagnosed as gyrate atrophy (GA) for 2 decades. She had presented with nyctalopia. Clinical examination revealed bilateral, symmetrical scalloped chorioretinal atrophy (CRA), reduced photopic and scotopic responses on electroretinography (ERG), and high-normal serum ornithine, leading to a diagnosis of GA. Although ornithine was consistently high in adulthood, atypical features like persistent peripheral retinal sparing and noncoalescence of CRA patches led to a reconsideration of diagnosis at 27 years of age. ERG was pathognomonic, and genetic testing revealed an NRL mutation, confirming the diagnosis of ESCS. The patient followed a paleolithic diet in adulthood, which possibly contributed to the high ornithine; diet discontinuation lowered the ornithine levels to high-normal. We present a rare case of NRL mutation-associated ESCS, along with the unusual feature of raised serum ornithine, highlighting the phenotypic variability of inherited retinal dystrophies.

hIDetaKa MatSuMoto MD, PhD Assistant professor Department of Ophthalmology, Gunma University School of Medicine, Japan Wet age-related macular degeneration (AMD), also known as neovascular or exudative AMD is the commonest cause of choroidal neovascularization at the macula. However, several entities mimic wet AMD, which can be distinguished on careful clinical examination and relevant imaging modalities. A high index of suspicion is required to identify these mimickers early in the course of the disease, which can otherwise be missed. Their recognition is of importance owing to varying management strategies and prognosis visa-vis wet AMD.

In this report, we describe the clinical features and spectrum of gene variants of an Indian cohort with Stargardt disease (STGD). We reviewed the medical records of 98 eyes of 49 patients with STGD who underwent colour fundus photography, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), full-field electroretinography (FFERG) and genetic testing using an NGS panel. Demographic data, clinical features, FAF, OCT, FFERG characteristics, and genotype analysis were the main outcome measures. The median age at onset and presentation was when the patients were 14 years (Range: 5-49 years) and 22 years (Range: 6-55 years) old, respectively. Median BCVA was 0.7 logMAR (Range: 0-1.8 logMAR). Lower BCVA was associated with the presence of flecks outside the arcade, significantly lower central foveal thickness (CFT), reduced scotopic and photopic FFERG response (Type III) and multiple areas of low FAF signal at the posterior pole with a heterogeneous background (Type III). Longer disease duration was associated with Type III FAF signal and Type III ERG response. ABCA4 gene mutation was seen in 44 (> 80%) patients; 1 each had PROM1, CNGB3, and PDE6A/TULP1 variants, and 2 had no known variants. Later onset of the disease was noted in patients with 2 recurrent variants (c.5882G>A and c.859-9T>C) detected in 8 patients each. Most patients reported at a younger age compared to other populations. FAF categories, CFT, and FFERG patterns correlated with disease duration and BCVA.

This case series describes the clinical features and genetic testing results of four patients from two families affected by Knobloch syndrome (KS). KS is an autosomal recessive collagenopathy characterized by vitreoretinal degeneration, high myopia, retinal detachment, and occipital encephalocele. In addition, a myriad of other ophthalmic and systemic features may be present in the affected individuals. Mutations in the COL18A1 gene are primarily implicated in the pathogenesis of the disease. The phenotypical differences seen in our genetically-proven patients show the clinical heterogeneity of this condition. Diagnosis of KS type-1 was confirmed by genetic analysis in all affected patients. Surgical intervention was done to salvage vision in three patients. This case series highlights the importance of meticulous clinical examination and diagnosis of this rare condition. Genetic counseling and testing are important for suspected patients and for guiding patients on the visual prognosis of the disease.

PURPOSE:There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region.DESIGN:Multi-national, multi-center collaborative network.METHODS:The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries.RESULTS:The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists.CONCLUSIONS:The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.

Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome is an autosomal dominant disorder, and genome-wide sequencing has identified the ALPK1 gene as the cause of this rare systemic ocular disorder.[1] We report a unique case of ROSAH syndrome with genetic positivity of both the ALPK1 and ABCA4 genes, exhibiting phenotypical ocular features of retinal degeneration, optic disc involvement, ocular inflammation, and headache.